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Prepair 500+

Gene: ATM

Green List (high evidence)

ATM (ATM serine/threonine kinase)
EnsemblGeneIds (GRCh38): ENSG00000149311
EnsemblGeneIds (GRCh37): ENSG00000149311
OMIM: 607585, Gene2Phenotype
ATM is in 23 panels

2 reviews

Lilian Downie (Victorian Clinical Genetics Services)

Comment when marking as ready: NB for reporting carrier mother may need additional breast cancer surveillance
Created: 1 Aug 2024, 2:03 a.m. | Last Modified: 1 Aug 2024, 2:03 a.m.
Panel Version: 1.67

Lauren Rogers (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association. Ataxia-telangiectasia (AT) is a chromosome breakage disorder characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy.

Severe, progressive childhood-onset disorder.
Created: 25 Jul 2024, 5:47 a.m. | Last Modified: 25 Jul 2024, 5:47 a.m.
Panel Version: 1.65

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ataxia-telangiectasia, MIM# 208900

Publications

History Filter Activity

24 Apr 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atm has been classified as Green List (High Evidence).

24 Apr 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ATM were changed from Ataxia-telangiectasia, 208900 (3) to Ataxia-telangiectasia, MIM# 208900

24 Apr 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ATM were set to

3 Nov 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

gene: ATM was added gene: ATM was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATM were set to Ataxia-telangiectasia, 208900 (3)